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Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

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  • Wang Ni
  • Sheng Chen
  • Kai Qiao
  • Ning Wang
  • Zhi-Ying Wu

Abstract

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles. To assess the genotype-phenotype correlation in Chinese patients, we identified 155 patients with SBMA and retrospectively examined available data from laboratory tests and neurophysiological analyses. Correlations between genotype and phenotype were analyzed. There was an inverse correlation between the length of CAG repeats and age at first muscle weakness (p

Suggested Citation

  • Wang Ni & Sheng Chen & Kai Qiao & Ning Wang & Zhi-Ying Wu, 2015. "Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy," PLOS ONE, Public Library of Science, vol. 10(3), pages 1-9, March.
    • Handle: RePEc:plo:pone00:0122279
    DOI: 10.1371/journal.pone.0122279
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